Incidental Mutation 'R6500:Gm11564'
ID 519686
Institutional Source Beutler Lab
Gene Symbol Gm11564
Ensembl Gene ENSMUSG00000078258
Gene Name predicted gene 11564
Synonyms
MMRRC Submission 044632-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R6500 (G1)
Quality Score 172.009
Status Validated
Chromosome 11
Chromosomal Location 99705802-99706492 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 99706061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 123 (T123I)
Ref Sequence ENSEMBL: ENSMUSP00000100676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105055]
AlphaFold A2A4L9
Predicted Effect unknown
Transcript: ENSMUST00000105055
AA Change: T123I
SMART Domains Protein: ENSMUSP00000100676
Gene: ENSMUSG00000078258
AA Change: T123I

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 47 5e-9 PFAM
Pfam:Keratin_B2_2 14 58 1.6e-13 PFAM
Pfam:Keratin_B2_2 29 73 3.2e-14 PFAM
Pfam:Keratin_B2_2 54 97 8.4e-14 PFAM
Pfam:Keratin_B2_2 69 113 3.6e-15 PFAM
Pfam:Keratin_B2_2 94 138 1.3e-13 PFAM
Pfam:Keratin_B2_2 104 152 3.9e-13 PFAM
Pfam:Keratin_B2_2 114 163 5.4e-9 PFAM
Pfam:Keratin_B2_2 129 184 4.2e-6 PFAM
Pfam:Keratin_B2_2 165 201 2.9e-6 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 A G 12: 81,606,380 (GRCm39) F461L probably benign Het
Adamtsl3 C A 7: 82,227,818 (GRCm39) H1334Q probably benign Het
Adgrf1 A G 17: 43,621,263 (GRCm39) N500S probably damaging Het
Afdn A G 17: 14,042,634 (GRCm39) D335G possibly damaging Het
Arhgap19 G A 19: 41,775,077 (GRCm39) T178M probably damaging Het
Chac2 T C 11: 30,927,625 (GRCm39) D86G probably damaging Het
Clhc1 T C 11: 29,510,542 (GRCm39) S209P possibly damaging Het
Col1a2 G A 6: 4,515,517 (GRCm39) G127S unknown Het
Coro2b A G 9: 62,396,606 (GRCm39) F51L probably benign Het
Cux2 A G 5: 122,002,789 (GRCm39) S1139P probably benign Het
Cyth3 A T 5: 143,693,595 (GRCm39) I379F probably damaging Het
Dock2 A T 11: 34,312,822 (GRCm39) L240H possibly damaging Het
Ercc6 A G 14: 32,248,780 (GRCm39) K444E probably damaging Het
Fam3b A G 16: 97,302,101 (GRCm39) L52P possibly damaging Het
Fat4 T G 3: 39,035,418 (GRCm39) Y3023* probably null Het
Gad1 A T 2: 70,423,780 (GRCm39) N396Y probably damaging Het
Gbp2b A G 3: 142,317,252 (GRCm39) E536G probably benign Het
Herc2 G T 7: 55,796,393 (GRCm39) E1922* probably null Het
Hrh4 G T 18: 13,155,525 (GRCm39) V355F probably damaging Het
Isyna1 A G 8: 71,047,339 (GRCm39) I21V probably damaging Het
Jak1 T C 4: 101,039,130 (GRCm39) D165G probably benign Het
Klhl38 C A 15: 58,185,809 (GRCm39) G307* probably null Het
Krt77 T C 15: 101,772,772 (GRCm39) N269S probably damaging Het
Lrp4 T A 2: 91,322,765 (GRCm39) I1118N possibly damaging Het
Ly6i T C 15: 74,853,833 (GRCm39) Y30C probably damaging Het
Magi2 A G 5: 20,807,345 (GRCm39) E620G possibly damaging Het
Mbl2 A G 19: 30,216,839 (GRCm39) D217G possibly damaging Het
Mogat2 T A 7: 98,871,553 (GRCm39) I253F probably benign Het
Mpped2 T C 2: 106,691,925 (GRCm39) L210P probably damaging Het
Nav3 C A 10: 109,600,617 (GRCm39) A1337S probably damaging Het
Ncaph2 T A 15: 89,248,407 (GRCm39) V206E probably benign Het
Nlgn1 T C 3: 25,488,094 (GRCm39) E747G possibly damaging Het
Nlrc3 C T 16: 3,770,308 (GRCm39) G237D possibly damaging Het
Nsun7 A G 5: 66,452,827 (GRCm39) D514G probably benign Het
Or10al5 C G 17: 38,063,577 (GRCm39) D277E probably damaging Het
Pals2 A G 6: 50,175,146 (GRCm39) K500E possibly damaging Het
Pcnx2 C A 8: 126,480,224 (GRCm39) V2028F probably damaging Het
Pdx1 G T 5: 147,207,440 (GRCm39) W131L probably damaging Het
Pkdrej C T 15: 85,703,747 (GRCm39) V730I probably damaging Het
Plcg1 T A 2: 160,596,487 (GRCm39) Y669N probably damaging Het
Plpp1 G T 13: 113,003,454 (GRCm39) W226L probably damaging Het
Sfxn1 G A 13: 54,242,918 (GRCm39) V59I probably benign Het
Shank1 T C 7: 43,976,645 (GRCm39) I581T unknown Het
Slc35f6 A C 5: 30,814,164 (GRCm39) K150N possibly damaging Het
Slc5a7 A T 17: 54,591,231 (GRCm39) S234T probably benign Het
Smg6 C T 11: 74,821,331 (GRCm39) T534I possibly damaging Het
Ush2a C T 1: 188,573,724 (GRCm39) T3649I probably benign Het
Vmn1r158 T C 7: 22,490,078 (GRCm39) T44A possibly damaging Het
Vmn1r217 A T 13: 23,298,073 (GRCm39) Y276* probably null Het
Vmn2r100 T A 17: 19,742,355 (GRCm39) I243N probably damaging Het
Vwde T C 6: 13,208,404 (GRCm39) probably null Het
Washc4 C A 10: 83,394,687 (GRCm39) P306T probably damaging Het
Wdhd1 C T 14: 47,488,217 (GRCm39) probably null Het
Xpo6 T C 7: 125,770,262 (GRCm39) probably benign Het
Other mutations in Gm11564
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02528:Gm11564 APN 11 99,706,293 (GRCm39) nonsense probably null
IGL02655:Gm11564 APN 11 99,705,982 (GRCm39) nonsense probably null
IGL02859:Gm11564 APN 11 99,705,953 (GRCm39) missense unknown
IGL03130:Gm11564 APN 11 99,705,879 (GRCm39) missense unknown
R1469:Gm11564 UTSW 11 99,706,058 (GRCm39) missense unknown
R1469:Gm11564 UTSW 11 99,706,058 (GRCm39) missense unknown
R1878:Gm11564 UTSW 11 99,706,266 (GRCm39) missense unknown
R4903:Gm11564 UTSW 11 99,705,858 (GRCm39) missense unknown
R5808:Gm11564 UTSW 11 99,705,867 (GRCm39) missense unknown
R7534:Gm11564 UTSW 11 99,706,347 (GRCm39) missense unknown
R7796:Gm11564 UTSW 11 99,706,424 (GRCm39) missense unknown
R9425:Gm11564 UTSW 11 99,706,065 (GRCm39) missense unknown
R9661:Gm11564 UTSW 11 99,706,247 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCAGCTCACAAGTGCTCTATATATGG -3'
(R):5'- TGCATCTCCAGCTGTTGTCG -3'

Sequencing Primer
(F):5'- CAAGTGCTCTATATATGGAATGTTGC -3'
(R):5'- TGTTGTCGCCCCAGCTG -3'
Posted On 2018-06-06